ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease, dominant intermediate C by Invitae

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Total variants: 8
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HGVS dbSNP
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443

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